Rare multisystem ciliopathy disorders
Gene: IFT140
Offered on GOS ciliopathy panelCreated: 19 Jan 2017, 2:41 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 9 with or without polydactyly 266920
Publications
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Green List (High Evidence).
Publications for IFT140 were set to 22503633
Phenotypes for gene IFT140 were set to Short-rib thoracic dysplasia 9 with or without polydactyly, 266920;Jeune syndrome;Saldino-Mainzer syndrome;Short-rib thoracic dysplasia 9 with or without polydactyly;Mainzer-Saldino Syndrome
IFT140 was added to Rare multisystem ciliopathy disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
IFT140 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
IFT140 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
IFT140 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
IFT140 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Phenotypes for gene IFT140 were set to Short-rib thoracic dysplasia 9 with or without polydactyly, 266920
IFT140 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
IFT140 was created by ellenmcdonagh